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Items: 1 to 20 of 132

1.

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.

Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP.

Nat Genet. 2013 May;45(5):531-6. doi: 10.1038/ng.2590. Epub 2013 Mar 31.

2.

Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.

Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M.

Clin J Am Soc Nephrol. 2015 Jun 5;10(6):1011-9. doi: 10.2215/CJN.08520814. Epub 2015 Apr 8.

3.

DGKE and atypical HUS.

Quaggin SE.

Nat Genet. 2013 May;45(5):475-6. doi: 10.1038/ng.2622.

PMID:
23619787
4.

Phenotypic expansion of DGKE-associated diseases.

Westland R, Bodria M, Carrea A, Lata S, Scolari F, Fremeaux-Bacchi V, D'Agati VD, Lifton RP, Gharavi AG, Ghiggeri GM, Sanna-Cherchi S.

J Am Soc Nephrol. 2014 Jul;25(7):1408-14. doi: 10.1681/ASN.2013080886. Epub 2014 Feb 7.

5.

Podocyte dysfunction in atypical haemolytic uraemic syndrome.

Noris M, Mele C, Remuzzi G.

Nat Rev Nephrol. 2015 Apr;11(4):245-52. doi: 10.1038/nrneph.2014.250. Epub 2015 Jan 20. Review.

PMID:
25599621
6.

Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE.

Lee JW.

Clin Genet. 2013 Oct;84(4):342-3. doi: 10.1111/cge.12240. Epub 2013 Aug 6. No abstract available.

PMID:
23875923
7.

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F, Maga T, Meyer NC, Wang K, Thomas CP, Nester CM, Smith RJ.

J Am Soc Nephrol. 2014 Jan;25(1):55-64. doi: 10.1681/ASN.2013050453. Epub 2013 Sep 12.

8.

Genetics of atypical hemolytic uremic syndrome (aHUS).

Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A.

Semin Thromb Hemost. 2014 Jun;40(4):422-30. doi: 10.1055/s-0034-1375296. Epub 2014 May 5. Review.

PMID:
24799305
9.

Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.

Sánchez Chinchilla D, Pinto S, Hoppe B, Adragna M, Lopez L, Justa Roldan ML, Peña A, Lopez Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S.

Clin J Am Soc Nephrol. 2014 Sep 5;9(9):1611-9. doi: 10.2215/CJN.01640214. Epub 2014 Aug 18.

10.

Complement activation in diseases presenting with thrombotic microangiopathy.

Meri S.

Eur J Intern Med. 2013 Sep;24(6):496-502. doi: 10.1016/j.ejim.2013.05.009. Epub 2013 Jun 4. Review.

PMID:
23743117
11.

[Atypical hemolytic-uremic syndrome related to abnormalities within the complement system].

Frémeaux-Bacchi V, Fakhouri F, Roumenina L, Dragon-Durey MA, Loirat C.

Rev Med Interne. 2011 Apr;32(4):232-40. doi: 10.1016/j.revmed.2009.09.039. Epub 2011 Mar 3. French.

12.
13.

[Genetics of aHUS and transplant recurrence].

Bresin E.

G Ital Nefrol. 2015;32 Suppl 64. pii: gin/32.S64.3. Italian.

PMID:
26479051
14.

[Atypical HUS caused by complement-related abnormalities].

Yoshida Y, Matsumoto M.

Rinsho Ketsueki. 2015 Feb;56(2):185-93. doi: 10.11406/rinketsu.56.185. Review. Japanese.

PMID:
25765799
15.

[Pathophysiology of atypical hemolytic uremic syndrome. Ten years of progress, from laboratory to patient].

Frémeaux-Bacchi V.

Biol Aujourdhui. 2013;207(4):231-40. doi: 10.1051/jbio/2013027. Epub 2014 Mar 5. Review. French.

PMID:
24594571
16.

Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.

Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP.

J Am Soc Nephrol. 2006 Jul;17(7):2017-25. Epub 2006 Jun 8.

17.

Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.

Richards A, Kathryn Liszewski M, Kavanagh D, Fang CJ, Moulton E, Fremeaux-Bacchi V, Remuzzi G, Noris M, Goodship TH, Atkinson JP.

Mol Immunol. 2007 Jan;44(1-3):111-22. Epub 2006 Aug 1. Review.

PMID:
16882452
18.

Atypical hemolytic uremic syndrome: what is it, how is it diagnosed, and how is it treated?

Nester CM, Thomas CP.

Hematology Am Soc Hematol Educ Program. 2012;2012:617-25. doi: 10.1182/asheducation-2012.1.617. Review.

PMID:
23233643
19.

Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.

Alberti M, Valoti E, Piras R, Bresin E, Galbusera M, Tripodo C, Thaiss F, Remuzzi G, Noris M.

Am J Transplant. 2013 Aug;13(8):2201-6. doi: 10.1111/ajt.12297. Epub 2013 Jun 3.

20.

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

Ying L, Katz Y, Schlesinger M, Carmi R, Shalev H, Haider N, Beck G, Sheffield VC, Landau D.

Am J Hum Genet. 1999 Dec;65(6):1538-46.

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